Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

@article{Kaler1993PlasmaAC,
  title={Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.},
  author={Stephen G Kaler and David S Goldstein and Courtney S. Holmes and Jorge A. Salerno and William A Gahl},
  journal={Annals of neurology},
  year={1993},
  volume={33 2},
  pages={171-5}
}
Menkes disease is a neurodegenerative disorder of copper metabolism. Because the enzyme dopamine-beta-hydroxylase requires copper to catalyze the conversion of dopamine to norepinephrine, we reasoned that patients with Menkes disease would have a neurochemical pattern similar to that seen in patients with congenital absence of dopamine-beta-hydroxylase, i.e., high levels of dopamine, the dopamine metabolite dihydroxyphenylacetic acid (DOPAC), and the catecholamine precursor… CONTINUE READING
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